Traits

Traits linked to EPM2A

EPM2A glucan phosphatase, laforin

The Human Phenotype Ontology links 40 traits to EPM2A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Focal sensory seizure with visual features	Always
Lafora bodies	Always
Epilepsy	Very often (80–99%)
Abnormal gait	Often (30–79%)
Ataxia	Often (30–79%)
Can't control feelings	Often (30–79%)
Confusion	Often (30–79%)
Dementia	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Erratic myoclonus	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Giant somatosensory evoked potentials	Often (30–79%)
Headache	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Inability to walk	Often (30–79%)
Mental deterioration	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Visual hallucinations	Often (30–79%)
Atypical absence seizure	Sometimes (5–29%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Vegetative state	Sometimes (5–29%)
Apraxia	Not recorded
Psychosis	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Nasogastric tube feeding	Often (30–79%)
Liver failure	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Severe sun sensitivity	Sometimes (5–29%)
Photosensitive skin	Not recorded

Abnormality of the eye

Trait	How often it is seen
Visual loss	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent aspiration pneumonia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to EPM2A and how often each is seen. Find out more at hpo.jax.org.

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